Evans Syndrome: A Family Affair

Contributed by Joe Camilleri

Introduction

In 2007 and again in 2010, I was diagnosed with Evans Syndrome - a rare autoimmune disorder in which the body produces antibodies that destroy the red blood cells, platelets and white blood cells.  It has no known cause and is not believed to be hereditary. However, my situation appears to be unique even for this relatively rare disease.

Background

I was born on the island of Malta and immigrated to the United States in the 60's with my family as a child.  My older brother, who was also born in Malta, was diagnosed with ITP as a baby.  The disease went away without any treatment.

I had an uncle in Malta, who passed away from an unknown blood disorder before I was born.  It is now speculated that the disease might have been ITP and/or hemolytic anemia.  His son, who eventually immigrated to Australia, was diagnosed with ITP several years ago.  The disease went into remission after splenectomy.  He passed away last year but I don't have details because I had only recently discovered that he was my cousin.

My sister, who was born in the United States, was diagnosed with ITP about 10 years ago.  She was treated with Prednisone and the disease went into remission where it has remained.

My Struggle

I was diagnosed with Evans Syndrome in 2007.  It was initially treated with Prednisone but its effects were very short-lived.  My hematologist recommended splenectomy but I refused since my spleen was healthy and functioning normally.  A very low platelet count helped my argument against the surgery. 

At that time, Rituxan was being used as a cancer treatment but not widely used for the treatment of other diseases.  My hematologist said it had to be a last resort but I convinced her to try it anyway.  The treatment appeared to work after several weeks.

The disease went into remission for six months, after which, my platelets dropped sharply.  Once again splenectomy was recommended and once again I refused.  Rituxan was tried again and, after several weeks, the disease again went into remission.

In September of 2010, I was once again diagnosed with Evans Syndrome.  This time the disease was a little harder to get under control and I received many blood transfusions.  I was given a dose of Cytoxan to stop the hemolysis and once again treated with Rituxan.  After several weeks, this miracle drug once again came to my rescue.

My Daughter's Battle

Immediately after I had recovered from my illness, my daughter started complaining about tingling in her legs and occasionally seeing spots.  She had a sinus infection and we thought that it was somehow related.

 Her physician recommended a CT scan in order to rule out a brain tumor.  The day after the CT scan, my daughter started vomiting.  We took her to the doctor again after this continued for several days.  We were told that it was simply the flu and that the results from her CT scan were normal.

The vomiting continued on a daily basis and many tests were done but each time we were told that everything was fine.  The nurses at the physician's office were clearly becoming annoyed with my many phone calls.  My daughter was referred to a surgeon (not really sure why) who simply said she did not need surgery but recommended another CT scan.  My daughter had not been able to hold down food for weeks and now she was asked to drink the Barium shake.  That was horrible!

With still  no answers and increasing desperation, we decided to take my daughter to Emergency because her finger tips appeared shriveled.  I thought that she might be dehydrating.  After a very long examination, the ER doctor said my daughter's kidneys were functioning at 16% and that she would be admitted for treatment.

The Real Nightmare Begins

 The sinus infection could not be treated until my daughter's kidneys had recovered to a safe level.  After a couple of weeks of treatment, her kidneys stabilized and antibiotics could be administered.  Immediately, my daughter started complaining about intense tingling in her legs and trouble moving them.  The antibiotics had triggered an autoimmune response.  After the diagnosis was repeatedly changed, it was finally considered to be ADEM - an immune mediated disease of the brain.  Left untreated, the paralysis which started in the legs, would work its way up the body until the respiratory system was affected resulting in death.

Treatment for ADEM was identical to that for Evans Syndrome - Prednisone and IVIG.  After her condition stabilized, my daughter was released to a rehabilitation hospital to try to regain the use of her legs.  She was told that she may always have a mobility problem.

My daughter went to physical therapy and returned to school in a wheelchair after missing much of her senior year of high school.  Her goal was to walk again when she graduated.  She achieved her goal and made plans to attend college but not before following in my medical footsteps.

Evans Syndrome Strikes Again

Everything seemed to be returning to normal when my daughter complained about feeling badly.  We assumed it was due to her impaired kidney function and took her to the hospital.  Tests showed that her hemoglobin had dropped sharply.  Since she was still technically a pediatric patient, her treatment was a little different than mine.  Her hematologist had her do plasma pheresis, then prescribed Immuran, Prednisone, IVIG, countless units of blood, and finally Rituxan. 

My daughter's hemoglobin was 3.1 at its lowest point.  It took about 8 months until her hemoglobin approached the normal range.  After it did, it was her platelets turn to crash.

Since she had turned now 18, we transferred my daughter's care over to my hematologist.  He started with Prednisone but, like me, she showed only a modest initial response then nothing.  She started a Rituxan treatment and ultimately responded as I did.

Fighting the Disease

Rituxan appeared to play a key role in combating Evans Syndrome for my daughter and I.  However, I believe that a good support system and faith are also keys to overcoming this disease.  To me, the psychological stress was far worse than the physical symptoms.

For anyone interested, I kept a diary of my second battle with Evans Syndrome.  You may read it or watch the video presentation at http://passionwind.com.   It was my intent to record my most intimate thoughts as I once again battled this terrible disease.  I was sure that God would once again answer my prayers.  What I experienced was beyond my wildest imagination.  My story is hard to believe but none of it is fabricated or exaggerated.

I pray that you may find a bit of comfort or inspiration in what I have written.  If you or a family member is experiencing Evans Syndrome, it is easy to feel overwhelmed and desperate.  However, never lose hope.  God answers prayer.  I am not sure I honestly believed that before I got sick.  I am quite convinced of it now.

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

Carter's Story

Contributed by Carter's Mom

Carter's Family

Our son, Carter, is a fun, energetic, absolutely adorable almost-3-year-old little boy. His story began when we found out we were spontaneously expecting not one, but two babies at our 11 week ultrasound. It was a smooth, uneventful pregnancy until my water broke, out of the blue, at 25 weeks.

Fraternal twin boys were born 3 days later, 15 weeks early, weighing just under 2lbs each.  The first 3 months of life were spent in the NICU (neonatal intensive care unit) at the University of Michigan. It was touch and go for a while and a roller coaster of ups and downs but we were extremely blessed that our boys came home strong and healthy.

One year from bringing the boys home, feeling settled into our life as a family, we were out in the yard on a snowy winter day for the boys' first sled ride. They were all bundled up in baby-blue snowsuits, and wearing sunglasses.  We had fun pulling them around. When we came inside and were taking off Carter's hat, we noticed some purple dots where the hat sat on his forehead and around his chin.  We chalked it up to either some sort of a heat rash from being bundled up or to having sensitive skin like his Dad and blamed the hat for causing the irritation.  This was on a Saturday.  

A curious and nervous mom who is the need-to-know type, I jumped on the computer to figure out what those purple dots likely were. On many pages it stated that petechiae (broken blood vessels forming tiny dots under the skin) is the only rash that is a medical emergency. Carter's spots did resemble those in the pictures, but he only had a few, unlike the pictures showing head-to-toe coverage.  As the weekend went on and the spots remained we decided to give the pediatrician a call on Monday, feeling OK that we waited based on the fact that Carter was exhibiting no other signs of being ill. The call prompted an appointment and the pediatrician immediately recognized the dots as petechiae.  However, from the minimal amount of spots, he assumed the platelet count might come back around 60,000 - 80,000, and that it was likely pediatric ITP (immune/idiopathic thrombocytopenic purpura) from which Carter would bounce back from quickly.  We were sent for a blood draw in the lab downstairs, and told we'd either get the results the next day or after hours if it was urgent. The day went on as normal with the precaution to make sure Carter avoided major impacts/falls.

Around 8pm the doc on-call phoned. In a calm manner, she asked where Carter was and how he was doing (he was peacefully sleeping in his crib) and then she informed us that the platelet count came back at 5,000. We had read enough to know this was critically low. Carter was happily asleep in his bed, so once we had family on board to take care of his brother, we were off to the ER for a hospital admittance and treatment with IVIG. There were talks of possible leukemia. We experienced immense amounts of stress from being back at the hospital we were discharged from just one year ago. We were now on the hematology/oncology floor, sharing a room with a very sick little boy fighting brain cancer.

Carter responded to the IVIG, and we were sent home with a platelet count of 73,000. Five days later the count was 90,000 and we thought we were on the way up and in the clear; so did the docs. Four days after that we noticed some spots (petechiae), and went for a blood draw that came back at 7,000. What?

The story went back and forth like this for most of the next 4+ months, as Carter was treated with both prednisone and IVIG. Finally, in May, a remission was hit after bottoming out with a platelet count of 1,000 around Mother's Day.  Carter has held strong with platelet counts ranging from 200,000 to 500,000 since (14 months).  Fingers crossed and lots of prayers still being said. The remission was finally hit after trying IVIG and prednisone combined, having tried them separately with transient response. We/the docs considered Rituximab, but we were skeptical/nervous and opted for a trial of IVIG and prednisone first, and it worked (along with many prayers).   

The first two blood draws when this all started in January 2011 revealed neutrophil counts of 300 and 1300. Carter had just overcome a cold, and the lower counts were thought to be from fighting that. Other than doing a bone marrow biopsy to rule out leukemia (ok 3 bone marrow biopsies — first sample was bad (terrifying/devastating), second was for a better sample, and third was after treatment wasn't working to make sure nothing was missed), not much attention was given to the low neutrophil count...In fact they didn't even order it on a handful of blood draws. However, as time went on and Carter's neutrophil count remained in the low to extremely low range, the docs' concern grew. The bone marrow biopsies both revealed that Carter had 10 times the amount of "baby" neutrophils than the average person. More blood tests revealed an antibody present to his neutrophils, as well as one to his platelets.  So, his body was essentially tagging and destroying the neturophils and then working in overdrive to make replacements.

Coombs tests were run twice, the first negative, the second positive. However, so far we have been blessed to stay clear of hemolytic anemia.

A diagnosis was given after ruling out many other things and going for more blood work than one could imagine a 15 month old could have gone through.  We also took Carter for a second opinion appointment at Children's Hospital of Detroit (Carter is seen at the University of Michigan), and received two opinions from docs out of state via phone and sending medical records. It took a few months to unravel Carter's case, but Evans Syndrome is his diagnosis. 

To keep a twin baby-turning-toddler boy safe from falls, bumps, and bruises was extremely challenging. He and his brother were just learning to stand and walk, and so up went adhesive bumpers on all the corners of the house and furniture. The entire first floor of our house has hardwood, so we covered that in those colorful play mat tiles you can buy. More time was spent on walks and in the pack-and-play to try to keep the bumps and bruises at a minimum. Helmets were purchased to protect Carter's little head from falls, especially when we played outside. And, we limited tumble time with his twin brother as much as we could without restraining him from being the fun, energetic little boy that he is.

Carter became really puffy from the prednisone and had petechiae and bruises from head to toe, as well as a large hematoma on his arm (that we called 911 for when we were new to all of this). It was extremely hard, to say the least.  We did all we possibly could to protect him and keep him safe. We thank God every day for the remission we hit with the platelets, and pray the neutrophils will follow in time.

The miracle about all of this is that Carter is beaming with energy and other than the blood draws, which he tolerates very well, he shows no other signs of being "sick.” He runs, jumps, plays, and wrestles with his brother just as he should. We are now on an every-other month blood-draw routine, which is fantastic compared to when we were going multiple times a week.

We know at almost 3 years old Carter's story has barely begun, but it has been so eventful from the start. 

To cope with having sick children is not easy, from a simple cold or virus to things much more complicated such as extremely premature birth and Evans Syndrome.

My mother has Lupus and Rheumatoid Arthritis, and so do three of her cousins, as did her Grandmother. I personally believe there is/can be a genetic link to autoimmune diseases, even if not completely proven by science (yet). With that said, who knows what the future holds. Obviously we hope and pray for a clean bill of health.

When faced with the ITP and neutropenia without it being leukemia or other suspects, the docs struggled for answers. I took it upon myself to read medical journal articles, contacted those who wrote ones that seemed relevant and found some wonderful, extremely helpful docs out there. All I want is for my son to be OK and live a long, healthy, happy life. I want to do all I can to help him because, although we have found some wonderful doctors, there seems to be a kind of disconnect out there in the medical world. Although I did not find it until Carter hit a remission, The Evans Syndrome Community Network has made me feel so much less alone. I kept saying to my husband and family when this was all happening that Carter could not be groundbreaking medical information; there had to be someone, somewhere who had or was going through this, too. I wanted to go on the national news and find somebody! I did even better finding this group.

May all who encounter Evans Syndrome be blessed with long remissions and may we one day find a cure.

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

Conner's Story

contributed by Amanda Ballesteros

Conner Ryan Lloyd 1999 - 2012

I would like to share with others the story of my Angel, Conner Ryan Lloyd, in the hope of helping others struggling with Evans Syndrome, and to let them know they are not alone. 

My son was born a healthy 8-pounds 9-ounces on September 12, 1999.  He was a perfect baby and always happy. 

In 2004, our lives changed forever. Conner started to develop bruises almost overnight. Some thought this was a case of abuse, and an investigation was opened. We ended up at Primary Children's Hospital in our hometown of Salt Lake City, Utah. 

After undergoing blood tests, we discovered Conner had ITP. He was given an infusion of IVIg, and I thought everything was going to be OK. 

A few months went by. Conner developed a cough. I took him for a check up, and they found his hemoglobin (red blood) was low. We went straight to the hospital for additional testing. After the bone marrow biopsy came back negative for cancer, we were able to sigh relief. The blood test came back Coombs positive, and the disease rare: Evans Syndrome. 

Conner was in and out of the hospital every couple of months for mostly minor low blood counts, and he always responded quickly with a treatment and prednisone. It was difficult for our family to adjust to hospital stays and treatments, but after a while we adjusted to the situation knowing it would be a chronic illness.  

Eventually we decided to give rituximab a try. Conner went into remission for 8-9 months at a time! My son was actually able to live a normal, healthy boy's life. 

In May 2012, Conner wasn't feeling well. Stomach pains, anemia, and fatigue. We were admitted into the hospital. After 11 blood transfusions, IVIG, 500 mg prednisone, Cellcept, rituximab, and a splenectomy, Conner lost his battle with Evans Syndrome. It was June 8th, 2012. His kidneys were very stressed and not able to release all the toxins from treatments, and his potassium count rose to a level that stopped his heart. 

A parent never prepares themselves enough to lose a child. I honestly did not think Conner would have passed from this disease and its complications of treatment. I don't know if there was another underlying disease that he may have had, but the pain that Conner suffered is now over. May he rest in peace. 

Conner wanted to be a doctor so he could help other kids going through a chronic illness. I believe sharing his story is a way of helping him achieve this goal. He is an amazing, brave, and dearly missed little boy. 

As part of the Evans Syndrome Community Network, I have met some wonderful families in support of raising awareness and promoting research on autoimmune blood diseases including Evans Syndrome. I want to be a part of the support that families and individuals need when suffering from this illness. I want my son's name to always be remembered. Hopefully his story helps another. 

Amanda Ballesteros

Mother of Conner Lloyd 09/12/1999-06/08/2012

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

My Story

contributed by Kim Wright

It was 2005. I had flu-like symptoms, was very lethargic, feeling sick. I also had a terrible headache. No matter what I did, I just couldn't get rid of the headache. After five days of laying in bed in agony, my mum said enough was enough, and called for my GP. 

The doctor came to my home and tested my urine for possible pregnancy, but that was negative. My mum is an insulin-dependent diabetic, so the doctor also tested my blood sugar levels. This revealed I was slightly hypoglycemic but that was because I hadn't been eating for several days. After the tests, my doctor rang for an ambulance, as I was on the verge of losing consciousness. 

At the hospital, I had more blood tests, and was placed in quarantine: Originally they suspected meningitis. They put me on 100 mg of prednisone folic acid, as well as a vitamin tablet. That's when I met my haematologist, Dr. Watson. He came out of semi retirement because I was a cause for concern. 

Four days later, I was moved onto the hospital's blood ward, where I was told I had a condition called autoimmune haemalytic anemia. My haemoglobin had dropped to 2, which is what caused the headaches. I was given five units of blood. 

I remember this as a very distressful time. I broke my ankle three weeks prior, so I was still recuperating from that when I was in the hospital. To this day, I suspect the trauma of breaking a limb triggered my Evans Syndrome. I was given morphine for pain, and my condition was downgraded, but when I tried to go to the bathroom by myself I collapsed. There was not enough blood to circulate through my body. The second time it happened, my heart had to be restarted. 

After three units of blood, I started to feel a lot better, and was sent home after 9 days on 80 mg of prednisone. When I returned to Dr. Watson for my follow-up appointment, he told me that I had Evans Syndrome. 

In June of 2006, my platelet count dropped dramatically. I bruised at the slightest touch, and my menstrual period was unusually heavy. Dr. Watson put me on a treatment called rituximab. Thankfully, I responded.

In November of that same year, I miraculously fell pregnant. The baby was due in August of the following year. However, not long into the pregnancy, I was told by a doctor that I should consider terminating my pregnancy: The effects of rituximab on the unborn were unknown, and my child could end up with disabilities. 

I didn't even have to consider the possibilities: I would continue the pregnancy and give my child a chance. I gave birth to a perfect baby boy weighing 6 pounds 9 ounces, 6 days overdue, by c-section. We will celebrate his fifth birthday this year. 

I have been on and off steroids now for 7 years. I have been given somewhere around 40 blood transfusions. Personally, I have found Azathioprine to be the best treatment for me. Currently, I'm on 200 mg daily, with no side effects. 

I do suffer in other ways: I have irritable bowel syndrome, rheumatoid arthritis, and I battle with my weight because of the steroids. Sometimes I get very tired, but I'm still up-beat, and I don't let this get to me. 

The main thing is that I'm alive. I don't worry about relapse, and I pray for treatment success…I don't think I would be human if I didn't. I fight…and I win. 

In between all of these years, I contracted Legionnaires Disease. I was in intensive care, and was left with weakness in my left lung. I am now prone to chest infections, which lead to pneumonia. I always have back up antibiotics at home, as infections seem to be a main cause of allowing my platelets to drop. I've learned the signs, and I'm quick to react.

I owe Dr. Watson a great deal. He is not just my consultant: He and the members of his team are my friends. I can turn to them any time. 

I am now 29 years old. I hope my story helps. Thank you for reading.


Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

Every Day Is a Gift

Contributed by C. McNamara Romanowski

My name is Constance. I am 51 years old. Seven years ago, I was diagnosed with Evans Syndrome.

There were signs that I had a problem with my immune system for many, many years, actually beginning around age 2 when I was first diagnosed with a severe allergy to penicillin.  Around age 7, I was diagnosed with eczema. At age 15 I was placed on birth control pills to control crazy menstrual cycles. At 29, it was Hashimoto’s thyroiditis. In my 30s, I developed numerous allergies to various medications, primarily sulfas. Also, I started having problems with unexplained pain throughout my body. Sometimes I wondered if I would see my 40^th birthday.

When I made it to 40, I thought, “Wow, every day from here on out is a gift!”

On my 44^th birthday, I was diagnosed with Evans Syndrome following a lengthy period of decline that culminated in a hospitalization.

Treatment  consisted of blood transfusions, IVIg, and finally rituximab. Not so very long after my last rituximab infusion, my blood counts skyrocketed to normal but then I started having trouble breathing.

On my 45^th birthday I was diagnosed with massive pulmonary emboli in both lungs due to Factor V Leiden and a Lupus trait to hyper-coagulate. Once my Evans had been brought under control, it gave the hyper-coagulation tendencies in my body a chance to wreak havoc. My life was saved by a catheter into my lungs, injecting strong anti-coagulants directly into the clots.

Sometime during my 45^th year, I was diagnosed with fibromyalgia, and then Lupus. I have been lucky, though. So far, Lupus doesn’t appear to have affected any of my organs.

Throughout this journey, I have sought information with regard to what’s happening to my body. In particular, it was difficult to find much information on Evans Syndrome. Because of that, my husband, William, and I decided to start a network of people who shared this diagnosis. The Evans Syndrome Community Network was born.

Speaking figuratively…We are from every continent; we are every race; we are every age; we are every sex. We are the Evans Syndrome Community, and we are united. We may be rare, but we are not alone. Together we will make a difference, standing shoulder to shoulder.

I have been asked, “Who are your heroes?” 

I really have to answer: "My heroes are my doctors and nurses and all of the other individuals who have participated in my healthcare. My heroes also are all of the moms and dads and grandparents and spouses out there who are caring for a person with Evans Syndrome. My heroes are those who have Evans Syndrome and fight every day to overcome its obstacles."

Today I am on blood thinners, and I am in remission from Evans Syndrome. Every day is indeed a gift…every breath, a joy.

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

It's My Story...

Contributed by Laura Thurman Shaffer

As I was walking through the mall with my mom and daughter, I was thinking to myself, ‘How lucky I was to be buying baby clothes again!’

I had wanted this baby for years, and I was finally showing!! I also just got over a scare: I had started bleeding, and they weren’t sure why. They did do an ultrasound and found a little tear in my uterus, so I was put on bed rest for a few weeks.

Earlier that day, I had cut my finger while working in the kitchen. I looked down at the cut, hours later, thinking it was funny that it was still bleeding. It bled so much when I first cut it that I ended up with blood all over the floor, as well as covering at least a dozen paper towels! My concern led me to stop in at my husband’s station to get it looked at, and I got laughed at!

“Laura, its just a little scratch!” Nick said. He wouldn’t have thought so if he saw the mounds of paper towels and blood on my kitchen floor! Oh, well.

Back at my mom’s house a few hours later, I had to pee again—another fun perk of pregnancy! As I got up, there it was again…peach-tea urine. I called my mom in to see if I was crazy, and she thought that I needed to call my OB doctor.

“Laura, that’s weird, plus you do not look right…Are you sure your going to be OK while I am in Florida?” she asked.

“Moooooommmmmm…I’ll be just fine!” I said. To be safe, I called my OB and got an early-morning appointment.

That next day, I went to my doctor appointment, and got to hear my little guy’s heartbeat! The doctor came in, took one look at me, pushed on my stomach (which was always hurting me), and said that I needed to get to the emergency room right away.

I called my husband, but I was not panicked. I told him to stay at work; that it was probably just so I could get checked out, and that I would be home later.

I sat there alone for hours on a hard bed in the triage unit of the OB floor. They came in for blood every hour. Finally, after 5 hours of waiting, a nurse came in and said a doctor would be in shortly to see me.

That nurse did not tell me that a team of doctors was coming, but that’s what I got. I was shocked to see so many white coats standing beside the bed. They asked me all kinds of questions. Finally, one asked, “Mrs. Shaffer, have you ever had problems with your blood?” I shook my head, indicating that I had absolutely no history of blood-related problems, and then they told me they were admitting me to the hospital.

The next morning was a blur of specialists, and a statement that I will NEVER forget. “In Order To Save You, We May Have To Take Your Baby.” I was barely hitting 19 weeks: The baby would never survive delivery.

I thought, ‘After all that I had been through to get him, you want to take him away from me?? NO WAY.’

That day, to my surprise, my skin turned very yellow. Jaundice! They told me that billirubin would cross the placenta and cause problems. All day long, specialists provided me with more bad news, but not one could tell me what was wrong with me. It wasn’t HELLP (related to the very serious pregnancy complication of pre-eclampsia); although similar, some of the key symptoms were not there.

Finally, after a week in the hospital, a hematologist was able to stabilize my blood, and I went home on bed rest and monitoring. I visited my hematologists and my OB every few days, and I made it to 38 weeks…despite all the speculations of a premature birth.

I gave birth via a caesarean, which was a terrible experience for my OB! Then my hematologist diagnosed me with me Evan’s Syndrome. He seriously thought that maybe this was all pregnancy-related but my blood did not recover after birth. In fact, ITP and hemolytic anemia were getting worse. The steroids were no longer helping; blood transfusions were not helping; Iron Transfusions were not helping. Rituxan was my next step, however, the pain in my stomach was severe and the rapid growth of my spleen could no longer be ignored.

On June 3rd, 8 months after giving birth, my overly enlarged spleen was removed. I almost did not make it through the surgery. I had several blood transfusions and, if not for the patience of my surgeon and anesthesiologist, I would not be writing this today. Not only did the surgeon remove from my body a spleen the size of a newborn: He also took out an accessory spleen!

One week and a drain tube later, I was released to go home. I still felt terrible and the pain on the opposite side of my stomach got worse. One very early morning when I got up to check on the baby, I nearly passed out.

I called my husband and he took me to the hospital. They did a CT scan, which not only showed that the drain tube crossed over my stomach, but that I had several more spleens. To this day, I still have pain where my spleens are, but they are not being monitored and we do not know if they are working.

A few weeks after surgery, I was told that my Evans Syndrome was in remission, and that maybe I never had it; They just couldn’t be sure.

Today is March 28, 2012. I still start to turn yellow. I get very pale, very tired, and my joints hurt. I stutter, and I have terrible headaches. My hands, arms, feet, and legs are always numb. I am not allowed to drive because its possible that I may be having mini seizures, and I have momentary memory loss. I feel swollen and bloated. But my blood is still in remission.

In November, I was hospitalized for a critically high level of ammonia in my blood. Still no one can tell me what’s wrong with me. I need someone to tell me. I want someone to tell me. I despair.

My life has completely changed: I feel weak and not in charge of myself anymore. I have no freedom, no career path, no money, and no insurance. Things have gone downhill so quickly. When I go to my hematologist I am made to feel like a hypochondriac, as if I can NOT be validated because my numbers are good. Luckily, my family doctor is listening: on April 11^th I will see a rheumatologist. My family doc suspects that lupus may be creeping through my body. FINALLY…an answer. I am awaiting an MRI—because I am an American without insurance, it’s on hold.

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

Ella's Evans Syndrome Story

Contributed by Libby Gray

For the first two and a half years of her life, my daughter Ella Rain was healthy. She was my first child and watching her grow up has been an experience sad and thrilling and terrifying all at once.  For the first two years of her life she a healthy, happy, beautiful, outgoing little baby girl.

New Year’s of 2004, when Ella was 29 months old and I was pregnant with her little brother, we went to a friend’s house for dinner.  My toddler ate nearly as much as my friend—a large man in his late 20s! That intense hunger was probably the first symptom we noticed.

Over the next several days she began asking for cup after cup of water, and was going through more diapers than she had as a newborn.  I contributed it to a urinary infection, or a growth spurt, or her being jealous of me and the baby.  I took her to the doctor, who said she just had a yeast infection in her diaper area and gave me some steroid cream that did no good.  My little girl was becoming different…she was whiney, tired, clingy and thirsty, thirsty, thirsty.

On February 9^th, 2004, Ella woke up vomiting in the middle of the night. She cried incessantly, begging for water, drifting in and out of sleep and complaining her eyes hurt, her legs hurt, her head hurt.  I tried to brush it off as just the flu, but my heart wouldn’t let me. I didn’t know what, but I knew it was something bigger. That afternoon, my husband got on the phone with the doctor who, in turn, told us to go straight to the hospital.

To shorten this long story, it was on that day that Ella was diagnosed with Type One Diabetes, an autoimmune disorder in which the immune system destroys the insulin-producing cells of the pancreas. Her blood sugar was nearly seven times the normal level, her blood chemistry was messed up, she had lost 8 pounds in six weeks, and was less than 12 hours away from a diabetic coma.  Suddenly we were thrust onto a steep learning curve of insulin injections, carbohydrate counting, and constant monitoring and vigor to balance a delicate hormone that could save a life or take it.

As time went on, diabetes became our “new normal”, and started to fade into the background of our everyday life. Ella was diagnosed with other autoimmune conditions over the next few years: Hashimoto’s hypothyroidism, severe allergies, and asthma. 

But our Evans story begins around December of 2008, when Ella was seven years old. At first I thought she might be getting sick, or in a growth spurt: She began experiencing relentless high blood sugars, having nosebleeds and being so weak and tired during the day she was taking napping more than her baby sister.  Next came the bruises that covered her body as if she’d been in a fist fight, the cold and ear infection that never quite went away, and the way I noticed her working just a little harder to take each breath.   

I was used to seeing a rainbow of colors from Ella: pink cheeks flushed from excitement and playing in the sun; ghost-like paleness from a low blood sugar; greens and browns of dirt and grass staining her knees from a hard day of play; marker, pencil, and paints of various shades covering her hands because her creative brain felt like making something.  But this was not a good rainbow to spot: she appeared deathly grey, with dark circles under her eyes; covered in purple bruises; and the whites around her hazel eyes just slightly yellowed.

Shortly after the New Year of 2009, Ella woke up with a 103F fever, blood in her urine and out her nose, and 450 blood sugar (her range is 80-150, and we rarely see numbers that high unless she’s very sick, we seriously miscounted carbs, or there is a problem with her insulin pump). She just looked like death warmed over.  Completely terrified, we decided not to waste time at the pediatrician’s office, and I took her straight to the ER.

They immediately started running blood work and found her hemoglobin and platelet counts to be severely low. She was admitted, given antibiotics and a blood transfusion, and the whirlwind of tests began to find out what was wrong.

I remember the first night: I sat by her bed and just sobbed. Why Ella? Why my family? She’s such a good girl and she’s already been through so much. Why can’t she just be left alone? The C-word was thrown around, but I refused to let it enter my mind. Lymphoma and leukemia—such big, horrifying diseases that just don’t happen to little girls who spend their time crafting, reading for pleasure, and doing cartwheels through the grass.

On January 10, 2009, after almost four days of testing on her urine, blood, and bone marrow, a direct Coombs test revealed the duel diagnosis of ITP and Autoimmune Hemolytic Anemia—Evans Syndrome.  I asked my husband, who was at home with the other two kids and the computer, to Google this bizarre disease.  He found nothing but horror stories and brief descriptions. I so wish we had found the Evans Syndrome Community Network (ESCN) at that time.

The pediatric hematologist explained the vicious attack her immune system was inflicting upon her body, and that the best way to stop it was a strong course of steroids to combat the attack. Steroids can make even a non-diabetic resistant to insulin, so her already-high blood sugars skyrocketed to five and six times the normal levels. I worried about the formation of dangerous ketones. Ketones are the by-product of high blood sugars as the body attempts to break down fat instead of glucose for energy.  She was already sick and developing trace ketones. I didn’t want to risk DKA (diabetic ketoacidosis:  a life-threatening level of ketones in which the blood is acidic and there is no way for the body to get energy from food.)

She was released from the hospital four days later, and for the next several weeks we walked a dangerous tightrope. The steroids stabilized her hemoglobin and platelets to around 10 and 30,000 respectively, but they sent her blood sugar soaring. I doubled, tripled, quadrupled her insulin dosages around the clock, but days were rare we saw a number under 200. In addition to the immediate risk of DKA, the paralyzing fear of future heart, eye, kidney, and limb damage from relentless highs kept me wide awake at night. As soon as we began tapering her off the steroids, her blood sugar would come down, but so would her hemoglobin and platelets. She ended up back in the hospital three times in two months from low platelets, low hemoglobin, or scarily high blood sugars with ketones.

By March, we’d all grown frustrated beyond belief with the battle between diabetes and steroids and I longed to see my daughter well.  It’d now been four months since she felt like a normal child—she was always tired, nauseous, thirsty, and dizzy from the high blood sugars or the Evans.  We both cried a lot in that time. Our whole family was missing the spunky, creative, energetic little girl we’d known just a few months prior. I begged our hematologist for another option. He suggested IVIG.

In April, we began the monthly infusions. After some trial and error with working out the horrendous headaches she would get from them, she started to respond very well. Her platelets went up to 60,000; 80,000; even 110,000 and her hemoglobin climbed, too.  While she didn’t particularly enjoy sitting for 5 hours in a doctor’s office every three weeks, we were all thrilled with the progress she was making. With the exception of our treatment days every few weeks, life was getting back to normal. Ella was getting back to normal.

On June 15^th, exactly one week before her eighth birthday, we began seeing dramatic drops in Ella’s white blood cell counts. We knew it increased her risk of infection, so we tried our best to keep her isolated…but in a houseful of small, social, germy children that was nearly impossible.  So began an uphill battle with chronic sinus and ear infections that would take two and sometimes three rounds of antibiotics to clear up before they would just return again. The infections also would drop her platelets and hemoglobin, trigger her asthma, cause roller coaster blood sugars, and make her just feel miserable. She went back on short courses of steroids, during which we struggled to control her blood sugar even more.  I tried every method I knew to protect and clean her sinuses and ears to prevent these infections: Neti pot washes, saline spray, fresh juice, homeopathic ear drops, garlic oil.  It helped some, but her weak immune system just couldn’t fight off these infections.

At the end of the summer, a nurse at our endocrinologist’s office recommended papaya leaf extract for low platelets, saying she knew a young leukemia patient who had great results with it for his platelets. A big fan of homeopathy, I ordered a bottle and gave it a shot. I gave her a large spoonful each morning  on an empty stomach, and her platelets shot up just as well as any IVIG treatment. We used it for about four or five months and her platelets haven’t been below 80,000 since then, even after stopping the extract.

While the papaya leaf extract stabilized her platelets, Ella still struggled with repeated infections, low WBCs and recurrent anemia. Her numbers would go up for about two weeks, then crash steadily in the remaining week or two before her next treatment. In October 2009, she was hospitalized for a week and a half for bronchitis, complicated by the Evans Syndrome, diabetes, and asthma. What a nightmare! In the prior months, we’d also had several overnight trips and 24 hour stays in the hospital to correct high or low blood sugars, ketones, and dehydration from stomach viruses and other infections.

We continued with steroid bursts, papaya leaf extract, IVIG, and round after round of antibiotics for the next year. She had a period of about two months in early 2010 when her numbers were very stable and treatment was working well; then her counts started to fall again.

In May of 2010, shortly before she turned 9, Ella had sinus surgery and ear tubes placed in an attempt to relieve the chronic infections. It didn’t get rid of them completely, but greatly cut down on the number of infections she got, and improved her quality of life.  The IVIG kept her stable for another month, so much so that her hematologist wanted to begin lowering her dose. That didn’t work well at all. Her counts fell drastically, her symptoms returned, and it took another round of steroids (and super high blood sugars) to pull them to safe levels.

After a failed, vomit-filled trial of Cellcept in August and September, Ella began the drug Rituxan in October 2010.

(Now might be the time to mention that in the midst of this chaos, we had a baby girl in August, and began fostering a four-year-old boy the week before Ella’s first Rituxan treatment. Instead of dragging all these kids with me to the hospital every two weeks, my husband graciously took Ella to all of her twice monthly infusions.)

Rituxan was a wonder drug for Ella. That, in addition to all our other measures, stabilized her counts drastically in a very short amount of time. For the first time in almost two years, she could play like a real little girl again—she could run outside with her siblings and not get tired. She could turn cartwheels and not be covered in bruises and blood. She wasn’t so sick anymore. She was Ella at last.

She took her last IVIG on December 10^th, 2010, and her last Rituxan shortly after the New Year.

On February 9^th, 2011—ironically the 7^th anniversary of her type-one diagnosis—Ella was officially declared in remission and has remained there for just over a year. 

I thought having a toddler with diabetes and a new baby was the hardest thing I ever went through. Little did I know I would deal with diabetes, Evans Syndrome, and five young children (now six—we adopted again in March 2012). 

Ella Rain is a trooper through all of it and the strongest person I know.  On our journey with Evans, she cried, she got angry, and she got scared. But through all of it she found a way to be her quirky, outgoing, positive self, even when dealing with the worst of it all. She’s been recently diagnosed with Celiac Disease (January 2012) and is adjusting to a gluten-free life with grace. 

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

Colby's Journey

Contributed by Amber Wakefield

Our journey began in April of 2010, so we are “babies” on this trip! My son, Colby was in 7th grade--a normal 13-year-old who liked to play sports, was busy with his church, and was, overall, a great kid. He still is!!

Colby started coming home from school with huge bruises on his arms or legs. To be honest, I thought he was being bullied at school, and somebody was hurting him. He kept on insisting that the bruises were from basketball or games in PE. Well, the mom’s intuition kept nagging in the back of my brain and time went on for a bit more, but I always felt as if something was wrong.

The next things we noticed were huge-looking hives, along with the bruises. Benadryl would make them go away for the duration of the medication but they would come right back. Finally, I took him to our family doctor, and he, thinking Colby was allergic to something, referred us to an allergist. So…to allergy testing we went: No allergies were revealed, so a blood test was written up. We went later that same day to have his blood drawn, and then headed home.

So began our entry into the world of a thing called Evans.

At 4:00 a.m. the next morning the allergist called to tell us Colby needed to go immediately to Children’s Mercy Hospital. My husband didn’t understand what the doctor was saying, so I took the phone. The doctor proceeded to tell me that Colby's platelet count was at 4 (or 4,000, as I would later come to learn). Too many numbers and not enough explanation; they are all still so confusing at times! The doctor also explained that if we didn't go, Colby could bleed to death. So we lay in bed and, of course, I cried: The immediate thought in my head was that it was cancer or leukemia of some sort.

We decided Colby was safe in bed, and so waited until his two older sisters were up for school and told them what little we knew. They were a little upset but headed off to school with lots of texts going back and forth. We got Colby up, and told him about the phone call. We explained that we needed to head to Children’s Mercy in downtown Kansas City.

As testing continued, I realized how blessed we are to have a Children’s hospital within 20 minutes of our home. I ran into many people that traveled for hours for their child’s treatment, or would have to use the wonderful downtown Ronald McDonald House facilities. I will never complain about traffic, or the drive, because we could always come home or have family come to us.

By this time, I am a mess but trying to contain it for my son’s sake. I didn’t want him to worry or be afraid. They kept taking more blood, and finally put in a port. My prayers increased. They started off telling us Colby had ITP but more assumptions were to come. Cancer was on the list but pretty far down. The doctor-on-call saw my reaction to the work and, again, tried to reassure me that cancer probably wasn’t causing the anomalous blood counts.

Eventually they took Colby up to the hematology/oncology unit—no comfort at all. My heart ached for these parents and all they have had and will continue to endure. I still pray for those families and what must undergo. As a side note, my freshman daughter, who plays soccer, was participating in the annual Cancer Battler Cup against their rival high school. I had that T-shirt on and was still reminded of what could be.

Colby received two bags of platelets that evening but they were eaten up within 12 hours, his counts returning almost back to where he began. This gave the doctors the direction to lean to Evans and away from cancer. My husband, who never cries, broke down in tears. He had been in Colby’s room praying for him and was relieved as we all were!!

So now the Google searches began! We did exactly what they told us not to do because there wasn’t much (and still isn’t much) information out in cyberspace. We also found out his red and white counts were low but not too bad.

They sent us home the next day with orders to come back later the following week for a bone marrow aspiration. We learned this was needed in order to confirm the “no cancer” diagnosis, since steroids are the first treatment generally given for Evans. With that test behind us, and again no cancer, Colby went on an horrendous regiment of steroids, to the tune of 300mg.

It is appalling what this drug (corticosteroids) does to the body!! Colby lost a part of himself during that time. My son who normally is loving, outgoing, and will laugh at anything, became withdrawn, depressed, and quiet. He hated it, I hated it, but most of all kids at school found something for them direct their stupidity towards. He started his 8^th grade year, looking like somebody else and feeling abnormal. We almost pulled him out to home school but he wanted to keep on going and things eventually calmed down. His school was great and did whatever was needed to accommodate him.

“Remission” lasted almost a year. Colby was and still is good about pointing out bruises or rashes. We went back in and blood work showed a big drop again so this time they did rituximab but without steroids!! Colby asked me in the car on our way home after finding out his counts had dropped, “Do I have a say in all of this?” I said, “of course.” This was the day he decided, never again on the steroids unless it is the only treatment!!

Four rounds rituximab of later, Colby has been in another “remission” for almost a year now!! His last set of blood work showed even more of a raise in platelets, red, and white cell counts. We don’t have to go back to the doctor for another 6 months, unless he shows signs of its return.

All during this time, our church prayed and continues to pray for Colby. There is much comfort in knowing others are on this road with us, and that no matter what happens, the Lord will never leave us. The end result may not yield what we want, but the lessons learned will always be priceless.

Colby has given up the sports but has found a new passion with acting and singing. He found his voice in a new way and has a heart that is bigger than a mom could ever imagine. For that, I am grateful for this path called Evans.

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

Evans Syndrome in a Nutshell

by C. McNamara Romanowski
DISCLAIMER: This document is being written by a layperson who has Evans Syndrome, not a healthcare professional. The information presented herein is provided with the understanding that it is not "gospel", as it were, but a frank look at Evans Syndrome facts and statistics from a layperson's point of view. This information should never replace advice given to you by your doctor or other healthcare professional.  
Evans Syndrome is an uncommon condition defined by the combination (either concurrently or sequentially) of an attack on two or more lines of blood, including red blood cells (Autoimmune Hemolytic anemia), platelets (Ideopathic Thrombocytopenia or ITP), and white blood cells, also known as leukocytes. This occurs when the immune system mistakenly targets these cells for destruction, and the spleen subsequently destroys them. Autoimmune cytopenia can be a sign of systemic autoimmune disease, such as Lupus or other connective tissue disorder, and the patient should be tested appropriately. (Mikhail Shtivelband, MD, PhD, and http://www.ncbi.nlm.nih.gov/pubmed/16398647)

A common misconception that we see in the general public seems to be: "If it's not cancer, then it must not be serious." It's true that Evans Syndrome is not cancer: It is not true that Evans Syndrome is not serious. Evans Syndrome is very serious. A report in the Journal of Pediatric Hematology/Oncology showed that Evans Syndrome has an approximately 7% mortality rate after 3 years. (http://journals.lww.com/jpho-online/pages/articleviewer.aspx?year=1997&issue=09000&article=00005&type=abstract) This study was published in 1997, and treatment has changed since then, so the mortality rate may not be quite as high today; however it is the only solid statistic with regard to mortality that can be provided in the text you are currently reading.

In order to obtain a diagnosis of Evans Syndrome (ES), certain other health problems must first be eliminated. For example, the symptoms of ES are very similar in nature to leukemia and lymphoma. As a result, both leukemia and lymphoma must be ruled out prior to a diagnosis of ES. A bone marrow biopsy is done to closely examine the body's mechanism for blood cell creation. A battery of blood tests reveals that there is no other reason for the low blood counts, as well as the presence of antibodies that are targeting healthy blood cells for destruction (Coombs test).

While awaiting diagnosis, blood transfusions may be given, as well as Intravenous Immunoglobulin (IVIg), which coats the blood cells, protecting them from destruction; and IV steroids, which slows down the immune system, helping to shut down the mechanism that is destroying the blood cells.

Once a diagnosis of Evans Syndrome is obtained, aggressive therapy is undertaken in order to shut down the immune system reaction to the blood cells. Most frequently this is done with very large doses of corticosteroids such as Prednisone or Decadron. Evans Syndrome does tend to be refractory to treatment, in which case additional medications may be used, including but not limited to certain chimeric monoclonal antibody treatments (Remicade, Rituxan, etc.), and anti-rejection drugs (Imuran, Cellcept, Cyclosporine, etc.). 

If a person with ES still does not respond to treatment, or should they continue to experience refractory episodes, splenectomy (removal of the spleen) may be considered. This is an invasive procedure that leaves the person without all of the body's natural defenses to infection. Because of this, a person without a spleen is wise to take extra precautions to prevent infection or exposure to illness throughout the rest of their life. Unfortunately, splenectomy is not always successful, sometimes requiring further treatment with the aforementioned drugs even after removal of the spleen. 

There are cases where no amount of drug treatment or surgical intervention helps, and the doctors may then recommend a bone marrow transplant. This is a very dangerous procedure, as the person must be given a battery of drugs to kill off their immune system, and then receive bone marrow stem cells from a donor. Marrow transplants for cancer can be done with autologous cells (taken from the person who is also to receive the transplant), however it is the understanding of this author that this is not the best choice for a person with Evans Syndrome.

Evans Syndrome has no cure. Today, the best that can be hoped for is lifetime remission. ES is considered to be an "orphaned" disease, as almost no research has been done. The reason for this is that there are so few people with ES that it is not fiscally responsible for drug companies to do research into a treatment or cure.

We are the Evans Syndrome Community Network, a non-profit organization serving those who are affected by ES. Our mission is to provide a safe place for networking between individuals whose lives have been impacted by Evans Syndrome (ES); to make available scientific and educational material, online and in medical environments, fostering learning about ES among our Community and the general public. We will assist families affected by ES with travel, lodging, and medical expenses; collaborate with other organizations that share our vision, and fund autoimmune research to benefit our international Community.

Should you need to contact us directly, for any reason, please drop us an email.
Thank you for asking about Evans Syndrome. Together we will make a difference, standing shoulder to shoulder.
Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

Our Journey through Evans Syndrome

Contributed by Nicole Gofman

Mom of Zachary, Age 8

Zachary was diagnosed with Evans Syndrome at the age of 5, after a 17-day stay at the Children’s Hospital of Philadelphia. Our journey started on the Fourth of July weekend while visiting family. Zachary had an infection on his leg and suddenly spiked a fever; when we brought him to the emergency department we were told that his white cell count was zero. We were admitted, and Zack underwent blood tests, cultures, MRIs, and a bone-marrow aspiration: All the while, as parents, we felt so helpless; scared; angry that we couldn’t do anything to make him better.

The doctors told us that Zachary has an auto-immune disease—either Autoimmune Lymphoproliferative Syndrome (ALPS) or Evans Syndrome. We were relieved that they had finally determined what was going on.

“Don’t Google them,” is what our hematologists said: Of course that’s the first thing we did. Not much information was out there about either disease, and what did turn up was scary.

Zack was treated with a combination of IVIG and steroids, and put on Nupogen. Finally his counts returned to normal. We were sent home to return to the out-patient clinic.

Since that Fourth of July weekend Zack has had problems with his white cells, red cells, and platelets. He has been on Sirolimus and Cellcept;. He’s had a Rituxan treatment, numerous hospitalizations, and more IVIG infusions than I can conveniently count. He has had bouts of autoimmunity evident in his brain and, most recently, his GI tract. We still haven’t found the “right” medicine for him, so he has been on steroids, of varying dosage, for the past 16 months. One thing is for sure, this disease sucks.

Even through all of this Zack is a well adjusted, happy child; he enjoys karate, video games, and Pokémon. I only hope that one day we will have the answers we need to manage Evans. In the mean time, we will enjoy all the healthy times, and cherish our moments of fun. We will nurse him and love him through the bouts of bad. Because that is what being an Evans parent is all about.

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

Solving a Mystery

Contributed by Carole Cascia

I remember the phone call that started it all. My 21-year-old son, Colin, had been living in Philly for about six months. Though I had met his girlfriend a few times, she had never called me. The next four words changed our lives forever:

“I’m worried about Colin.”

She spilled out a story that would make any mother panic. According to Jess, Colin had been exhibiting some strange symptoms. I knew that he had developed pneumonia and pink eye since he moved down to Philly from our home in Connecticut, but I attributed that to not eating right and burning the candle at both ends, as many young people do: Nothing strange there. But what Jess was telling me now was a lot harder to explain or write off. Colin was always tired and was having such intense night sweats that the sheets would be soaked in the morning. His skin color looked funny—something between yellow and grey; and he had lost a lot of weight.

I was not yet in nursing school, but had read enough to know that these were classic cancer symptoms.

I told her to sit tight and that I would be down there this weekend. Immediately, I called Colin and told him that I was going to visit him. Then I booked a hotel and called my partner at work, telling her that we would be going to Philly that weekend. I also called our family practitioner and made an appointment for Colin for early the following week.

After checking into the hotel, I called Colin. It was 1:00pm: He was still in bed. I thought that this was odd, as he was an early-bird. We arranged to meet at the subway stop near our hotel at 2:30pm.

If Jess’ phone call had alarmed me, the sight of my son scared me witless. I saw him come up from the subway station, and immediately grabbed my partner’s arm and said, “My God, he’s got cancer.”  Aside from the weight loss, he was quite pale, and was moving like an old man. His hair looked like it was thinning. It was absolutely shocking.

We spent the next 24 hours asking him about other symptoms. He was always tired; he had a hard time thinking straight; and he was pretty sure that he had fevers once in a while. Then I noticed the patches. His shirt was opened a bit and I saw the petechiae: Tiny red dots on the skin of his chest and neck. I knew that this was a sign of leukemia.

I didn’t want to alarm my son, but I told him that he would be coming home with us, and that we would then go straight to the doctor’s office. He complained that he really thought I was overreacting, and that he was probably just run down. Of course, I would hear nothing of it. He insisted that he had something that needed to be taken care of on Monday, so I made him promise that he would leave Monday afternoon. He finally agreed.

Colin insisted on going into the doctor’s office on his own. When he came out, he reported that the doctor had told him to go to the ER. He was not sure why.

I requested to talk with the doctor. She came out, and explained that she had done a pinprick test to check Colin’s RBC. A normal count for a male should be a  4.7- 6.1, when she checked Colin his was a 2.  She told me that they were waiting for him at the ER.

Colin seemed undaunted by this information: He was still thinking that he was a little anemic, but I did not feel so confident.

If I had not been sure that something was wrong before we entered the ER, I was sure once we checked in. There was no waiting. Colin was immediately whisked via wheel chair to a private room. There they took a blood test and the jovial doctor went quiet and serious when he saw the results. Colin’s red blood cells and white blood cells were all abnormally low as were his platelets. Not just on the low side, but life-threateningly low. I could hardly breathe, and now Colin was starting to worry. Within minutes there was a team of oncologists surrounding his bed, quick-firing questions: Had he been exposed to any chemicals; had he ever been tested for HIV; had he been out of the country… None of this was making any sense to either one of us, and when the doctor’s finally left us alone for a minute Colin looked at me and shakily asked me if he had cancer. I couldn’t answer his question.

The head oncologist pulled me aside, and said that he suspected that Colin had leukemia. In order to confirm or discount this diagnosis he would need to take do a bone marrow test.  Of course we agreed.

Over the next few weeks Colin had many tests but instead of answering our questions, it just seemed to lead to more questions. After leukemia was ruled out, the doctors thought Colin had ITP, but then why the low white and red blood counts? None of it seemed to make sense, but we did know that nothing was working. They tried transfusions and steroids, but still his counts were perilously low. They might climb for a bit, but they always crashed.

A diagnosis was finally confirmed after a positive Coombs test. Colin had Evans Syndrome. Of course, this was not something that anyone was familiar with, even Colin’s doctors. When I went home to try to find some more information, all I could find was a brief description of this strange disorder.

The next year was a haze of doctors’ visits and endless hospitalizations. Nothing seemed to get this damned Syndrome under control for any length of time, and my poor child was sinking into a depression as life went on and he was stuck either at home convalescing, or in the hospital. It was finally recommended that Colin have a splenectomy. It might put him into remission, and his spleen was very swollen and could rupture. It would be safer to remove it. It was a dangerous move, as his white blood count was still very low. He had a private room, but despite the best precautions, he ended up with endless complications after the surgery including: pneumonia; pleural effusions; and staph. To make matters worse, the splenectomy did not bring his counts up.

At times it seemed like he would never get out of the hospital and live a normal life.

After doing some research, I saw that Rituximab had been used successfully in the treatment of Evans Syndrome. The research was new, and certainly not overwhelming, but we needed to try something!

We went in for his first round of Rituximab, and I remember looking at all of the other patients in the room where they were getting chemo. I realized that my son looked sicker than any of them, even though he was, by far, the youngest person in the room. It was, again, a moment that I don’t wish on any mother. 

After three rounds of Rituximab all of Colin’s counts went up to normal. We held our breaths each week when we went in for his blood test; but each week they were holding steady.

Finally the doctor said what Colin had been waiting to hear—“You  can go back to Philly, and resume your life!”

We are one of the lucky families. Colin has been in remission for six years. He continues to get his blood tested by a hematologist in Philadelphia, but he is living a full and normal life.

As time goes on we worry less and less, but until there is a definitive cure or treatment for Evans Syndrome, we will never feel completely comfortable.

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.